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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:abnormal spiral ligament fibrocyte morphology
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Accession:MP:0004292 term browser browse the term
Definition:any structural anomaly in the four types of fibrocytes (types I, II , III and IV) that constitute the spiral ligament


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abnormal spiral ligament fibrocyte morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 IAGP MGI PMID:28934385 NCBI chr 6:83,719,999...83,735,837
Ensembl chr 6:83,719,972...83,735,837 		JBrowse link
G Man2b1 mannosidase 2, alpha B1 IAGP MGI PMID:16014715 NCBI chr 8:85,809,941...85,824,215
Ensembl chr 8:85,809,899...85,824,911 		JBrowse link
G Pou3f4 POU domain, class 3, transcription factor 4 IAGP MGI PMID:10407036 PMID:10464101 PMID:10587581 NCBI chr  X:109,857,985...109,862,714
Ensembl chr  X:109,857,886...109,860,813 		JBrowse link
G Slc4a11 solute carrier family 4, sodium bicarbonate transporter-like, member 11 IAGP MGI PMID:20185830 NCBI chr 2:130,526,027...130,539,439
Ensembl chr 2:130,526,033...130,539,439 		JBrowse link
G Slc4a7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 IAGP MGI PMID:16181686 NCBI chr14:7,669,819...7,766,808
Ensembl chr14:7,669,823...7,767,484 		JBrowse link
G Slc7a8 solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 IAGP MGI PMID:29355479 NCBI chr14:54,959,672...55,019,343
Ensembl chr14:54,959,666...55,019,403 		JBrowse link
abnormal type I spiral ligament fibrocytes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 IAGP MGI PMID:28934385 NCBI chr 6:83,719,999...83,735,837
Ensembl chr 6:83,719,972...83,735,837 		JBrowse link
G Pou3f4 POU domain, class 3, transcription factor 4 IAGP MGI PMID:10464101 NCBI chr  X:109,857,985...109,862,714
Ensembl chr  X:109,857,886...109,860,813 		JBrowse link
G Slc4a7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 IAGP MGI PMID:16181686 NCBI chr14:7,669,819...7,766,808
Ensembl chr14:7,669,823...7,767,484 		JBrowse link
abnormal type II spiral ligament fibrocytes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otos otospiralin IAGP MGI PMID:15632083 NCBI chr 1:92,571,940...92,576,630
Ensembl chr 1:92,571,940...92,576,563 		JBrowse link
G Pou3f4 POU domain, class 3, transcription factor 4 IAGP MGI PMID:10464101 PMID:12062767 NCBI chr  X:109,857,985...109,862,714
Ensembl chr  X:109,857,886...109,860,813 		JBrowse link
G Slc12a2 solute carrier family 12, member 2 IAGP MGI PMID:11377879 NCBI chr18:58,011,505...58,079,893
Ensembl chr18:58,011,750...58,079,893 		JBrowse link
abnormal type III spiral ligament fibrocytes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 IAGP MGI PMID:28934385 NCBI chr 6:83,719,999...83,735,837
Ensembl chr 6:83,719,972...83,735,837 		JBrowse link
abnormal type IV spiral ligament fibrocytes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otos otospiralin IAGP MGI PMID:15632083 NCBI chr 1:92,571,940...92,576,630
Ensembl chr 1:92,571,940...92,576,563 		JBrowse link
G Slc12a2 solute carrier family 12, member 2 IAGP MGI PMID:11377879 NCBI chr18:58,011,505...58,079,893
Ensembl chr18:58,011,750...58,079,893 		JBrowse link
type I spiral ligament fibrocyte degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndp Norrie disease (pseudoglioma) (human) IAGP MGI PMID:12040033 NCBI chr  X:16,751,760...16,778,013
Ensembl chr  X:16,751,760...16,778,013 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 IAGP MGI PMID:14532115 NCBI chr 2:112,096,659...112,193,508
Ensembl chr 2:112,096,170...112,193,508 		JBrowse link
G Slc26a4 solute carrier family 26, member 4 IAGP MGI PMID:15320950 NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		JBrowse link
type II spiral ligament fibrocyte degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a4 solute carrier family 26, member 4 IAGP MGI PMID:15320950 NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		JBrowse link
G Slc4a7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 IAGP MGI PMID:16181686 NCBI chr14:7,669,819...7,766,808
Ensembl chr14:7,669,823...7,767,484 		JBrowse link
type III spiral ligament fibrocyte degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a6 solute carrier family 12, member 6 IAGP MGI PMID:14532115 NCBI chr 2:112,096,659...112,193,508
Ensembl chr 2:112,096,170...112,193,508 		JBrowse link
type IV spiral ligament fibrocyte degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 IAGP MGI PMID:17021187 NCBI chr 7:57,057,417...57,240,808
Ensembl chr 7:57,057,420...57,159,807 		JBrowse link
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 IAGP MGI PMID:17021187 NCBI chr11:42,310,342...42,523,418
Ensembl chr11:42,310,584...42,519,855 		JBrowse link
G Gabrb3 GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3 IAGP MGI PMID:17021187 NCBI chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550 		JBrowse link
G Grid1 glutamate receptor, ionotropic, delta 1 IAGP MGI PMID:17438141 NCBI chr14:34,541,751...35,305,344
Ensembl chr14:34,542,065...35,305,336 		JBrowse link
G Slc4a7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 IAGP MGI PMID:16181686 NCBI chr14:7,669,819...7,766,808
Ensembl chr14:7,669,823...7,767,484 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16962
    skeleton phenotype 3370
      abnormal skeleton morphology 3177
        abnormal ligament morphology 54
          abnormal spiral ligament morphology 21
            abnormal spiral ligament fibrocyte morphology 15
              abnormal type I spiral ligament fibrocytes + 6
              abnormal type II spiral ligament fibrocytes + 5
              abnormal type III spiral ligament fibrocytes + 2
              abnormal type IV spiral ligament fibrocytes + 7
Path 2
Term Annotations click to browse term
  mammalian phenotype 16962
    hearing/vestibular/ear phenotype 1026
      abnormal ear morphology 570
        abnormal inner ear morphology 354
          abnormal membranous labyrinth morphology 305
            abnormal cochlear labyrinth morphology 271
              abnormal scala media morphology 271
                abnormal spiral ligament morphology 21
                  abnormal spiral ligament fibrocyte morphology 15
                    abnormal type I spiral ligament fibrocytes + 6
                    abnormal type II spiral ligament fibrocytes + 5
                    abnormal type III spiral ligament fibrocytes + 2
                    abnormal type IV spiral ligament fibrocytes + 7
paths to the root